Canonical Allele Identifier: CA7738232
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 371055
dbSNP Id: rs750293380

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90747491G>A , CM000677.2:g.90747491G>A GRCh38
NC_000015.9:g.91290721G>A , CM000677.1:g.91290721G>A GRCh37
NC_000015.8:g.89091725G>A NCBI36
NG_007272.1:g.35120G>A , LRG_20:g.35120G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355112.8:c.98+1G>A MANE Select ENSP00000347232.3:n.98+1G>A
ENST00000648453.1:c.98+1G>A ENSP00000497646.1:n.98+1G>A
ENST00000680772.1:c.98+1G>A ENSP00000506117.1:n.98+1G>A
ENST00000681142.1:c.98+1G>A ENSP00000506682.1:n.98+1G>A
ENST00000355112.7:c.98+1G>A ENSP00000347232.3:n.98+1G>A
ENST00000559282.1:n.102G>A
ENST00000559724.5:c.98+1G>A ENSP00000453359.1:n.98+1G>A
ENST00000560509.5:c.98+1G>A ENSP00000454158.1:n.98+1G>A
NM_000057.3:c.98+1G>A NP_000048.1:n.98+1G>A
NM_001287246.1:c.98+1G>A NP_001274175.1:n.98+1G>A
NM_001287247.1:c.98+1G>A NP_001274176.1:n.98+1G>A
NM_001287248.1:c.-1194+1G>A NP_001274177.1:n.-1194+1G>A
XM_011521882.1:c.98+1G>A XP_011520184.1:n.98+1G>A
XM_011521882.3:c.98+1G>A XP_011520184.1:n.98+1G>A
NM_000057.4:c.98+1G>A MANE Select NP_000048.1:n.98+1G>A
NM_001287246.2:c.98+1G>A NP_001274175.1:n.98+1G>A
NM_001287247.2:c.98+1G>A NP_001274176.1:n.98+1G>A
NM_001287248.2:c.-1194+1G>A NP_001274177.1:n.-1194+1G>A